DisGeNET - a database of gene-disease associations

List of associated variants

Astrocytoma, C0004114

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv			16
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		12
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs5050	AGT	0.827	0.200	1	230714140	intron variant	T/C;G	snv			7
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			7
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06		6
rs2378456	LPP	0.807	0.200	3	188885218	3 prime UTR variant	C/G;T	snv			6
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6
rs9288516	XRCC5	0.827	0.120	2	216188541	intron variant	T/A	snv		5.0E-02	6
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5
rs17522122	AKAP6	0.925	0.040	14	32833676	3 prime UTR variant	G/T	snv		0.41	5
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs4261436	AKAP6	0.925	0.040	14	32830276	3 prime UTR variant	T/C	snv		0.43	3
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			3
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs2431689	MIR3142HG	0.882	0.040	5	160472115	intron variant	G/A	snv		0.17	3
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	3